Ricardo H. Roda
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View article: Successful Treatment of Paraneoplastic Neuropathy and Pruritis With Scrambler Therapy: A Case Report
Successful Treatment of Paraneoplastic Neuropathy and Pruritis With Scrambler Therapy: A Case Report Open
Paraneoplastic neuropathy, including pruritis, remains a vexing problem as it often does not resolve even with successful treatment of cancer. Scrambler Therapy is a superficial form of neuromodulation that replaces the pain signal with "n…
View article: Identification of genetic risk loci and prioritization of genes and pathways for myasthenia gravis: a genome-wide association study
Identification of genetic risk loci and prioritization of genes and pathways for myasthenia gravis: a genome-wide association study Open
Significance Our study, involving 1,873 patients and 36,370 healthy individuals, is an extensive genome-wide study of myasthenia gravis. Our genome-wide association and transcriptome-wide association analyses identified two signals, namely…
View article: Inhibiting mitochondrial fission rescues degeneration in hereditary spastic paraplegia neurons
Inhibiting mitochondrial fission rescues degeneration in hereditary spastic paraplegia neurons Open
Hereditary spastic paraplegias are characterized by lower limb spasticity resulting from degeneration of long corticospinal axons. SPG11 is one of the most common autosomal recessive hereditary spastic paraplegias, and the SPG11 protein sp…
View article: Improving the efficacy of exome sequencing at a quaternary care referral centre: novel mutations, clinical presentations and diagnostic challenges in rare neurogenetic diseases
Improving the efficacy of exome sequencing at a quaternary care referral centre: novel mutations, clinical presentations and diagnostic challenges in rare neurogenetic diseases Open
Background We used a multimodal approach including detailed phenotyping, whole exome sequencing (WES) and candidate gene filters to diagnose rare neurological diseases in individuals referred by tertiary neurology centres. Methods WES was …
View article: Large Mitochondrial DNA Deletions in HIV Sensory Neuropathy
Large Mitochondrial DNA Deletions in HIV Sensory Neuropathy Open
Both IENFD and sural nerve amplitude statistically correlate with mitochondrial mutation burden in PWH, specifically in those with HIV-associated sensory neuropathy as assessed by skin biopsy.
View article: Prevalence of heart disease in patients with mitochondrial abnormalities on skeletal muscle biopsy
Prevalence of heart disease in patients with mitochondrial abnormalities on skeletal muscle biopsy Open
Objective Mitochondrial DNA mutations are associated with an increased risk of heart disease. Whether an increased prevalence of cardiovascular disease is present in patients presenting with mitochondrial abnormalities on skeletal muscle b…
View article: Obstructive sleep apnoea and hypoventilation in an adult with congenital myasthenic syndrome
Obstructive sleep apnoea and hypoventilation in an adult with congenital myasthenic syndrome Open
In this case report, we describe an adult male with congenital myasthenic syndrome due to mutations in muscle-specific receptor tyrosine kinase ( MuSK , c.79+2 T>G; IVS1 +2 T>G, c.2368 G>A, Val790Met) presenting with sleep apnoea and hyper…
View article: Novel hemizygous nonsense mutation in <i>DRP2</i> is associated with inherited neuropathy
Novel hemizygous nonsense mutation in <i>DRP2</i> is associated with inherited neuropathy Open
Mutations in DRP2 (OMIM #300052) encoding dystrophin-related protein 2, a 957 amino acid protein, were identified in a single patient with X-linked Charcot-Marie-Tooth (CMT) disease and are associated with familial autism.1,2 DRP2 is predo…
View article: Multigeneration family with dominant SPG30 hereditary spastic paraplegia
Multigeneration family with dominant SPG30 hereditary spastic paraplegia Open
Autosomal recessive KIF1A missense mutations cause hereditary spastic paraplegia (HSP) type SPG30, while recessive truncations lead to sensory and autonomic neuropathy (HSN2C) and many de novo missense mutations are associated with cogniti…
View article: SCA8 should not be tested in isolation for ataxia
SCA8 should not be tested in isolation for ataxia Open
Spinocerebellar ataxia types 1 (SCA1, OMIM# 164400) and 8 (SCA8, OMIM# 608768) are autosomal dominant, inherited ataxias. SCA1 is caused by abnormal expansion of a CAG triplet repeat in the ATXN1 gene, while SCA8 results from CAG and compl…
View article: De novo <i>REEP2</i> missense mutation in pure hereditary spastic paraplegia
De novo <i>REEP2</i> missense mutation in pure hereditary spastic paraplegia Open
Alterations in proteins that regulate endoplasmic reticulum morphology are common causes of hereditary spastic paraplegia (SPG1‐78, plus others). Mutations in the REEP1 gene that encodes an endoplasmic reticulum‐shaping protein are well‐kn…
View article: Complicated spastic paraplegia in patients with <i>AP5Z1</i> mutations (SPG48)
Complicated spastic paraplegia in patients with <i>AP5Z1</i> mutations (SPG48) Open
Our findings expand the spectrum of AP5Z1-associated neurodegenerative disorders and point to clinical and pathophysiologic overlap between autosomal recessive forms of HSP and lysosomal storage disorders.
View article: Neurologic syndrome associated with homozygous mutation at <scp>MAG</scp> sialic acid binding site
Neurologic syndrome associated with homozygous mutation at <span>MAG</span> sialic acid binding site Open
The MAG gene encodes myelin‐associated glycoprotein ( MAG ), an abundant protein involved in axon–glial interactions and myelination during nerve regeneration. Several members of a consanguineous family with a clinical syndrome reminiscent…